Figure 3

Distribution of CpG dinucleotides in the PAX6 open reading frame. The PAX6 cDNA is represented as a horizontal rectangle with the different coding regions indicated: PB, paired box, LNK, linker region, HB, homeobox, PST, proline/serine/threonine-rich region. Exon boundaries are indicated by vertical black lines. Exon numbers are shown beneath the cDNA, with the number of CpG's in brackets. Above the cDNA, each of the forty-five CpG dinucleotides in the PAX6 ORF is indicated by an arrow. Red arrows indicate the ten CpG's at which a nucleotide transition has occurred. Single-headed arrows indicate that the CpG deamination has occurred only on the forward strand (CpG > TpG). Double-headed arrows indicate that deamination has occurred both on the forward strand (CpG > TpG) and the reverse strand (CpG > CpA). Elongated red arrows indicate those CpG's that have been hit more than once on the forward strand; the resultant mutation is shown together with the number (in brackets) of independent records in the database.